Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3302850010 | Spastic paraparesis co-occurrent with deafness (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302851014 | Spastic paraparesis co-occurrent with deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302852019 | Spastic paraparesis and deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3302853012 | Wells Jankovic syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400931018 | A rare neurologic disease characterized by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400932013 | A rare neurologic disease characterised by spastic paraparesis presenting in late childhood and hearing loss. Additional features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor, dysdiadochokinesia, elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials. Plasma and fibroblast levels of saturated very long-chain fatty acids are normal. There have been no further descriptions in the literature since 1986. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Degenerative brain disorder | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Disorder of skeletal muscle | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Disorder of lower limb | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Spastic paraparesis | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Finding site | Lower limb structure | true | Inferred relationship | Some | 4 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 3 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 5 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Interprets | Muscle tone | true | Inferred relationship | Some | 5 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Associated morphology | Degeneration | false | Inferred relationship | Some | 6 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Finding site | Brain tissue structure | false | Inferred relationship | Some | 6 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Associated morphology | Degenerative abnormality | true | Inferred relationship | Some | 1 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Finding site | Brain tissue structure | false | Inferred relationship | Some | 1 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Hereditary degenerative disease of central nervous system | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Is a | Hearing loss | true | Inferred relationship | Some | ||
Spastic paraparesis co-occurrent with deafness (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 6 | |
Spastic paraparesis co-occurrent with deafness (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)